loading...| Preferred Name |
Cockayne Syndrome [Disease/Finding] |
|
| Synonyms |
Progeria-Like Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000802 |
|
| altLabel |
Progeria-Like Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Progeroid Nanism Cockayne Syndrome |
|
| cui |
C0009207 |
|
| MESH DEFINITION |
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. |
|
| MESH DUI |
D003057 |
|
| MeSH name |
Cockayne Syndrome |
|
| MESH UI |
M0004689 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000802 |
|
| NUI |
N0000000802 |
|
| prefLabel |
Cockayne Syndrome [Disease/Finding] |
|
| SNOMED CID |
21086008 |
|
| tui |
T047 |
|
| subClassOf |